Sattler Laboratory

Lab Description

Our laboratory studies the cellular and molecular mechanisms of neurodegeneration in central nervous system (CNS) disorders such as:

amyotrophic lateral sclerosis (ALS)

frontotemporal dementia (FTD)

We are particularly interested in elucidating the role of synaptic dysfunction in these diseases. We utilize different models to study synaptic biology including patient-derived human induced pluripotent stem cells (hiPSCs), patient autopsy brain tissue, and animal models of disease. We employ state-of-the-art molecular, biochemical, and microscopy technologies.

Goals

The research interest of our laboratory lies in the elucidation of disease pathways in neurodegenerative disorders including, but not exclusively, ALS and FTD. Specifically, we focus on the role of the synaptic structures and synaptic proteins during disease progression, with an emphasis on the regulation and dysregulation of the synaptic glutamate homeostasis.

With the development of innovative techniques for acquiring adult patient-derived human induced pluripotent stem cells (hiPSCs), we have adopted and validated this extremely valuable human cell culture platform to better understand the human molecular and cellular aspects of disease pathways. Human culture model systems will allow us to overcome known interspecies differences, which are especially critical at the level of transcriptional regulation and RNA processing and for the translation of our basic science discoveries into the clinic.

Ongoing research in our laboratory is focused on the discoveries of the molecular mechanisms of the newly identified gene mutation in C9orf72. This mutation is characterized by an expanded GGGGCC hexanucleotide repeat in the noncoding region of the C9orf72 gene on chromosome 9p21 and represents the most common genetic abnormality in FTD (10-30%) and ALS (20-50%). Specifically, we are interested in the contribution of synaptic dysfunction to C9orf72-mediated cognitive impairments observed in C9 patients.

Contact Information

About Barrow

Since our doors opened as a regional specialty center in 1962, we have grown into one of the premiere destinations in the world for neurology and neurosurgery. Our experienced, highly skilled, and comprehensive team of neurological specialists can provide you with a complete spectrum of care–from diagnosis through outpatient neurorehabilitation–under one roof. Barrow Neurological Institute: Discover. Educate. Heal.